29996004: Tetrasomy (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\Cellular AND/OR subcellular abnormality\Chromosomal morphology\Karyotype morphology\Aneuploidy\Tetrasomy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

50190018 Tetrasomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

760951011 Tetrasomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2505701000005117 tetrasomi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tetrasomy	Is a	Karyotype morphology	false	Inferred relationship	Some
Tetrasomy	Is a	Aneuploidy	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported.	Associated morphology	False	Tetrasomy	Inferred relationship	Some	1
Partial tetrasomy of chromosome 9 (disorder)	Associated morphology	False	Tetrasomy	Inferred relationship	Some	2
Tetrasomy 12p syndrome (disorder)	Associated morphology	True	Tetrasomy	Inferred relationship	Some	2
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported.	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
Tetrasomy of short arm of chromosome 9 (disorder)	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Hematological malignancies are also associated and may occur earlier than in trisomy 21.	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (including macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophrys, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
Tetrasomy 5p mosaicism	Associated morphology	True	Tetrasomy	Inferred relationship	Some	2
Tetrasomy 15q (disorder)	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
Tetrasomy 18p	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
Tetrasomy 18p	Associated morphology	True	Tetrasomy	Inferred relationship	Some	2
Tetrasomy of short arm of chromosome 9 (disorder)	Associated morphology	True	Tetrasomy	Inferred relationship	Some	2
Partial tetrasomy of chromosome 9 (disorder)	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
Tetrasomy 15q (disorder)	Associated morphology	True	Tetrasomy	Inferred relationship	Some	2
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.	Associated morphology	True	Tetrasomy	Inferred relationship	Some	1
16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.	Associated morphology	True	Tetrasomy	Inferred relationship	Some	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
50190018	Tetrasomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760951011	Tetrasomy (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2505701000005117	tetrasomi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)